ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645500091
Gene: AARS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001596.2:p.Ser731Leu
CA8140519
NM_001605.3:c.2192C>T